Cuesta, Jose de Leon Title: Formal thought disorder in schizophrenia: A factor analytic study , Publication:Comprehensive Psychiatry Elsevier March–April 1992 , Elsevier Retrieved 2012-01-12 ^ [1] doi : 10.1016/j.schres.2005.01.016 Retrieved 2012-01-12 ^ a b c Ghaziuddin, M.; Gerstein, L. (December 1996). "Pedantic speaking style differentiates Asperger syndrome from high-functioning autism". ... D.; Paul, R.; McSweeny, J. L.; Klin, A. M.; Cohen, D. J.; Volkmar, F. R. (October 2001).
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Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals. Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia ). They often have an opening in the roof of the mouth (cleft palate ) and/or a split in the upper lip (cleft lip ). These abnormalities frequently cause feeding problems in infants with Miller syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems.
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate , abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the disorder varies among affected individuals. Miller syndrome is caused by mutations in the DHODH gene. It is inherited in an autosomal recessive manner.
A number sign (#) is used with this entry because of evidence that postaxial acrofacial dysostosis (POADS), also known as Miller syndrome, is caused by compound heterozygous mutation in the DHODH gene (126064) on chromosome 16q22. Description Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010). Clinical Features Miller et al. (1979) described 3 patients with postaxial limb deficiency, cup-shaped ears, and malar hypoplasia, and reviewed other reported cases. An affected sib of one of the patients of Miller et al. (1979) was reported by Fineman (1981). Donnai et al. (1987) reviewed 7 published cases and 3 personally observed and previously unreported cases.
A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia. Epidemiology Less than 30 cases of Postaxial acrofacial dysostosis (POADS) have been described in the literature. Clinical description Clinical features further include cholestasis, bilateral inguinal hernia and cleft palate. The patients can develop myopic astigmatism and speech delay can be present. Facial features include sparse eyebrows, almond shaped eyes with up-slanting palpebral fissures, malar hypoplasia, long philtrum, small mouth, and low-set, malformed ears.
After occupational safety procedures were put into place following the realization that the metal caused berylliosis around 1950, acute beryllium poisoning became extremely rare. [1] Contents 1 Signs and symptoms 2 Risk factors 3 Diagnosis 4 Management 5 Prognosis 6 History 7 References 8 External links Signs and symptoms [ edit ] Generally associated with exposure to beryllium levels at or above 100 μg/m 3 , [1] it produces severe cough, sore nose and throat, weight loss, labored breathing, anorexia, and increased fatigue. [2] : 46 In addition to beryllium's toxicity when inhaled, when brought into contact with skin at relatively low doses, beryllium can cause local irritation and contact dermatitis , and contact with skin that has been scraped or cut may cause rashes or ulcers. [3] Beryllium dust or powder can irritate the eyes. [4] Risk factors [ edit ] Beryllium ore Acute beryllium poisoning is an occupational disease . [1] Relevant occupations are those where beryllium is mined, processed or converted into metal alloys, or where machining of metals containing beryllium or recycling of scrap alloys occurs. [5] Metallographic preparation equipment and laboratory work surfaces must be damp-wiped occasionally to inhibit buildup of particles. ... ToxGuide for Beryllium September 2002 ^ Batich, Ray and James M. Marder. (1985) Beryllium In (Ed. 9), Metals Handbook: Metallography and Microstructures (pp. 389-391).
Chapter 18. ^ a b c d e f g h i j k l m n o p q r s t u v w McAnich, Jack; Lue, Tom (2013). ... Chapter 18. ^ a b c d e f g h i j k l m n o p McAnich, Jack; Lue, Tom (2013).
. ^ Sinclair, Christopher; Gilchrist, James M.; Hennessey, James V.; Kandula, Manju (2005). ... Ganong's review of medical physiology . Barman, Susan M.,, Brooks, Heddwen L.,, Yuan, Jason X.
Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term). Epidemiology Prevalence is unknown. Clinical description The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia, along with muscle pseudohypertrophy. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Etiology The etiology of the muscle pseudohypertrophy is not known but it is thought to be a result of long standing hypothyroidism.
A number sign (#) is used with this entry because of evidence that specific granule deficiency-1 (SGD1) is caused by homozygous mutation in the CEBPE gene (600749) on chromosome 14q11. Genetic Heterogeneity of Specific Granule Deficiency See also SGD2 (617475), caused by mutation in the SMARCD2 gene (601736) on chromosome 17q23. Clinical Features In mammals, neutrophils contain 2 principal types of granules. The first type, azurophil granules, appear early in neutrophil development and contain lysosomal enzymes, lysozyme (LYZ; 153450), and myeloperoxidase (MPO; 606989). The second type, specific granules, are formed later, lack MPO and hydrolases, but contain lactoferrin (LF; 150210) and the remainder of the cell's complement of lysozyme.
A number sign (#) is used with this entry because of evidence that specific granule deficiency-2 (SGD2) is caused by homozygous mutation in the SMARCD2 gene (601736) on chromosome 17q23. Description Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).
A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.
NAHR is also thought to give rise to the reciprocal microdeletion syndrome, the polymorphic inversion between the ORDRs and a variety of other large scale abnormalities involving the short arm of chromosome 8. [6] Diagnosis [ edit ] Phenotypes [ edit ] Primary Secondary Tertiary NEUROLOGY MENTAL, COGNITIVE FUNCTION, general abnormalities Mental retardation/developmental delay VOICE Voice, general abnormalities Speech delay See also [ edit ] Chromosome 8 (human) References [ edit ] ^ a b c d Barber JC, Bunyan D, Curtis M, et al. (2010). "8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families" . ... PMID 18974263 . ^ Fellermann K, Stange DE, Schaeffeler E, Schmalzl H, Wehkamp J, Bevins CL, Reinisch W, Teml A, Schwab M, Lichter P, Radlwimmer B, Stange EF (2006).
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).
.; Huang, H. S.; Chuang, L. T.; Strnad, M. (2003). "Changes in sugars, organic acids and amino acids in medlar ( Mespilus germanica L.) during fruit development and maturation". Food Chemistry . 83 (3): 363–369. doi : 10.1016/s0308-8146(03)00097-9 . ^ Rop, O.; Sochor, J.; Jurikova, T.; Zitka, O.; Skutkova, H.; Mlcek, J.; Salas, P.; Krska, B.; Babula, P.; Adam, V.; Kramarova, D.; Beklova, M.; Provaznik, I.; Kizek, R. (2011).
The Journal of the Louisiana State Medical Society . 156 (3): 159–62. PMID 15233390 . Chenevert, M; Lewis, RJ (Mar–Apr 1992). "Ashman's phenomenon--a source of nonsustained wide-complex tachycardia: case report and discussion". ... PMID 19891250 . Harrigan, RA; Garg, M (Dec 2013). "An interesting cause of wide complex tachycardia: Ashman's phenomenon in atrial fibrillation".
PMID 8166102 . ^ Ikeda, T; Yamaguchi, M; Meguro, D; Kasai, K (2004). "Prediction and causes of open gingival embrasure spaces between the mandibular central incisors following orthodontic treatment". ... ISSN 0965-7452 . PMID 20158060 . ^ Lenhard, M (2008). "Closing diastemas with resin composite restorations".
., Hillyer, Christopher D., Westhoff, Connie M., American Association of Blood Banks. (18th ed.). ... CS1 maint: others ( link ) External links [ edit ] Anwar M, Bhatti F (2003). "Transfusion associated graft versus host disease" .
In one study, 10 meter belt transects were taken at various depths, sampling coral colonies in the Lesser Antilles . At a depth of 5 m, yellow band rings and lesions were found on 79% of the colonies per transect , and only 21% of the colonies in this depth range appeared healthy. [10] Recent research indicates that yellow-band disease continues to be in an infectious phases in the Caribbean. ... Diseases of Aquatic Organisms . 87 (1–2): 45–55. doi : 10.3354/dao02103 . PMID 20095240 . ^ Guerra, M; López, Ma; Estéves, I; Zubillaga, Al; Cróquer, A (16 January 2014).
Animal Genetics. ^ a b c Abuterbush, Sameeh M. (2009). Illustrated Guide to Equine Disease . ... Louis: Elsevier. [ page needed ] ^ a b McAuliffe, Siobhan B.; Slovis, Nathan M. (2008). Color Atlas of Diseases and Disorders of the Foal .
